Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters

    February 2018 in “ BMC Genomics ”
    Irina Chadaeva, П. М. Пономаренко, Д. А. Рассказов, Ekaterina Sharypova, Е. В. Кашина, Dmitry Zhechev, И. А. Драчкова, Olga Arkova, Л. К. Савинкова, М. П. Пономаренко, Nikolay А. Kolchanov, Л. В. Осадчук, Alexandr Osadchuk
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    TLDR Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
    Chadaeva et al. conducted a study to identify single nucleotide polymorphisms (SNPs) that could serve as markers of reproductive potential by affecting the affinity of TATA-binding protein (TBP) for gene promoters. They used a web service to analyze over 1000 SNPs and identified 126 candidate SNP markers. Some of these SNPs were associated with risks of thrombosis, myocardial infarction, and various cancers, while others were linked to blood diseases like malaria resistance and thalassemia. The study also found candidate SNPs related to conditions such as androgenetic alopecia, pre-eclampsia, and hyperandrogenism. In vitro experiments like electrophoretic mobility shift assay (EMSA) and cell culture transfection experiments were used to validate the effects of some candidate SNPs on TBP affinity and gene expression. The findings suggest that these SNPs are under strong natural selection pressure and could be used to personalize medical advice and interventions, potentially improving reproductive outcomes and longevity. The study supports the concept of predictive-preventive personalized medicine based on individual genome sequences, although the number of participants or samples was not specified in the summary provided.
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